{
    "disease_id": "DOID:0070354",
    "recommended_name": {
        "id": "DOID:0070354",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070354",
        "name": "cataract 48",
        "description": "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment."
    },
    "synonyms": [
        {
            "id": "DOID:0070354",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070354",
            "name": "CTRCT48",
            "description": ""
        },
        {
            "id": "MONDO:0032735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032735",
            "name": "cataract 48",
            "description": ""
        },
        {
            "id": "MONDO:0032735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032735",
            "name": "CTRCT48",
            "description": ""
        },
        {
            "id": "MIM:618415",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618415",
            "name": "Cataract 48",
            "description": "Cataract 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070354"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070354",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070354",
            "categories": []
        },
        {
            "id": "MONDO:0032735",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032735",
            "categories": []
        },
        {
            "id": "MIM:618415",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618415",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F1U2-1",
            "uniprot_ac": "E7F1U2",
            "uniprot_id": "DNMBP_DANRE",
            "refseq_ac": "NP_001410975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "Scaffold protein Tuba",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein Tuba",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnmbp",
                    "type": "recommended"
                },
                {
                    "name": "dnmbp",
                    "type": "synonym"
                },
                {
                    "name": "tuba",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F1U2-1",
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                {
                    "id": "0070354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AQ65-1",
            "uniprot_ac": "A0A8M3AQ65",
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            "refseq_ac": "XP_009290217",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Rho guanine nucleotide exchange factor TIAM1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tiam1b",
                    "type": "recommended"
                },
                {
                    "name": "tiam1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AQ65-1",
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                {
                    "id": "0070354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6TXD4-1",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Dynamin-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "Scaffold protein Tuba",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-binding protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein Tuba",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnmbp",
                    "type": "recommended"
                },
                {
                    "name": "2410003L07Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410003M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnmbp",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1010",
                    "type": "synonym"
                },
                {
                    "name": "TUBA",
                    "type": "synonym"
                },
                {
                    "name": "Tuba",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TXD4-1",
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                {
                    "id": "0070354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        },
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Rho guanine nucleotide exchange factor TIAM2",
                    "type": "recommended"
                },
                {
                    "name": "RAS-related C3 botulinum substrate 1, guanine nucleotide exchange factor 1",
                    "type": "synonym"
                },
                {
                    "name": "SIF and TIAM1-like exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell lymphoma invasion and metastasis 2",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tiam2",
                    "type": "recommended"
                },
                {
                    "name": "3000002F19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa2016",
                    "type": "synonym"
                },
                {
                    "name": "STEF",
                    "type": "synonym"
                },
                {
                    "name": "Stef",
                    "type": "synonym"
                },
                {
                    "name": "Tiam2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA2016",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZPF3-1",
            "evidence": [
                {
                    "id": "0070354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60610-1",
            "uniprot_ac": "Q60610",
            "uniprot_id": "TIAM1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor TIAM1",
                    "type": "recommended"
                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 1",
                    "type": "synonym"
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                {
                    "name": "TIAM-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tiam1",
                    "type": "recommended"
                },
                {
                    "name": "Tiam-1",
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                }
            ],
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                {
                    "id": "0070354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XZF7-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "Scaffold protein Tuba",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-binding protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein TUBA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNMBP",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF36",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT48",
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                },
                {
                    "name": "DNMBP",
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                {
                    "name": "KIAA1010",
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                },
                {
                    "name": "TUBA",
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                }
            ],
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                {
                    "id": "618415",
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                {
                    "id": "0070354",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11433-1",
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            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein 24",
                    "type": "recommended"
                },
                {
                    "name": "Calcium regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "Rho family guanine nucleotide exchange factor CDC24",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CDC24",
                    "type": "recommended"
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                {
                    "name": "CDC24",
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                    "name": "CLS4",
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                    "id": "0070354",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "name": "Dynamin-binding protein",
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                    "name": "dynamin-binding protein isoform 1",
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                {
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                    "id": "0070354",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "name": "T-cell lymphoma invasion and metastasis 1",
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                },
                {
                    "name": "T-lymphoma invasion and metastasis-inducing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIAM Rac1 associated GEF 1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor TIAM1",
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                }
            ],
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                    "name": "Tiam1",
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                    "id": "0070354",
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            "uniprot_canonical_ac": "D3ZMS5-1",
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                    "name": "T-cell lymphoma invasion and metastasis 2",
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                    "name": "T-lymphoma invasion and metastasis-inducing protein 2",
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                {
                    "name": "TIAM Rac1 associated GEF 2",
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                {
                    "name": "rho guanine nucleotide exchange factor TIAM2",
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                }
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                    "name": "Tiam2",
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                    "name": "Tiam2",
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                    "id": "0070354",
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            "uniprot_canonical_ac": "P91621-1",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Protein still life, isoform SIF type 1",
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                    "name": "CG34418-PI",
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                {
                    "name": "sif-PI",
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                    "name": "still life type 1",
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                {
                    "name": "still life type 2",
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                    "name": "still life, isoform I",
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                    "name": "still life",
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                    "name": "still-life",
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            ],
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                    "name": "sif",
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                    "name": "CG32414",
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                    "name": "CG34418",
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                {
                    "name": "CG5256",
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                {
                    "name": "CG5406",
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                {
                    "name": "Dm_3L:26493",
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                {
                    "name": "Dmel\\CG34418",
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                    "name": "Dmel_CG34418",
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                {
                    "name": "RhoGEF",
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                    "name": "SIF",
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                    "name": "Sif",
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                {
                    "name": "Stilllife",
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                {
                    "name": "lincRNA.447",
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                {
                    "name": "sif",
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                    "name": "slf",
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                    "id": "0070354",
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                }
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                    "name": "Homo sapiens",
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            ],
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                    "name": "Rho guanine nucleotide exchange factor TIAM2",
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                    "name": "SIF and TIAM1-like exchange factor",
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                    "name": "T cell lymphoma invasion and metastasis 2",
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                    "name": "T-lymphoma invasion and metastasis-inducing protein 2",
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                    "name": "TIAM-2",
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                    "name": "rho guanine nucleotide exchange factor TIAM2 isoform b",
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                    "name": "rho guanine nucleotide exchange factor TIAM2",
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                    "name": "TIAM2",
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                    "name": "KIAA2016",
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                    "name": "STEF",
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                    "name": "TIAM-2",
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                    "name": "TIAM2",
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                }
            ],
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                    "id": "0070354",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q13009-1",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Rho guanine nucleotide exchange factor TIAM1",
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                    "name": "T cell lymphoma invasion and metastasis 1",
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                    "name": "T-lymphoma invasion and metastasis-inducing protein 1",
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                    "name": "TIAM-1",
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                {
                    "name": "human T-lymphoma invasion and metastasis inducing TIAM1 protein",
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                {
                    "name": "rho guanine nucleotide exchange factor TIAM1 isoform 1",
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                {
                    "name": "rho guanine nucleotide exchange factor TIAM1",
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                }
            ],
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                {
                    "name": "TIAM1",
                    "type": "recommended"
                },
                {
                    "name": "NEDLDS",
                    "type": "synonym"
                },
                {
                    "name": "TIAM-1",
                    "type": "synonym"
                },
                {
                    "name": "TIAM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13009-1",
            "evidence": [
                {
                    "id": "0070354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070354"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070354"
}